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Phenotypes Associated with This Genotype
Genotype
MGI:6507151
Allelic
Composition
Tuba1aem1Rstot/Tuba1aem1Rstot
Genetic
Background
involves: C57BL/6J * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tuba1aem1Rstot mutation (0 available); any Tuba1a mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes are present at E18.5 but all are lost by weaning

nervous system
• 50% reduction in size at E16.5
• 30% reduction in the width at E16.5
• widened base in posterior brain regions
• reduced basal ganglia
• EdU labeling indicates a failure of neurons born at E13.5 to fully survive, differentiate and/or migrate towards the pial surface
• increase in the proportion of cells that re-enter the cell cycle at E13.5

homeostasis/metabolism
• thoracic edema

cardiovascular system
• hemorrhage in the cervical region extending towards the forelimbs

craniofacial
• in 3 of 11 embryos

skeleton
• thoracic curvature

cellular
• increase in the proportion of cells that re-enter the cell cycle at E13.5

growth/size/body
• in 3 of 11 embryos

digestive/alimentary system
• in 3 of 11 embryos

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital nervous system abnormality DOID:2490 J:278765


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/24/2023
MGI 6.22
The Jackson Laboratory